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Korean J Radiol 2022 Jun;23(6):688-690

Department of Radiology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine (SKKU-SOM), Changwon, Korea.

Klin Lab Diagn 2022 May;67(5):277-285

N.N. Alexandrov Republican Scientific-Practical Centre of Oncology and Medical Radiology, Belarusian Ministry of Health.

Non-small cell lung cancer (NSCLC) occupies the first place in the structure of mortality due to oncological diseases. Late diagnosis worsens the effectiveness of its treatment. There are no informative biomarkers that allow us to judge the prevalence of the tumor process, especially in the early stages of NSCLC. Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Apr;47(4):529-534

Department of Pulmonary and Critical Care Medicine, Affliated Hospital of Zunyi Medical University, Zunyi Guizhou 563000, China.

The clinical data for a patient with primary lung adenocarcinoma complicated with pulmonary hamartoma, who admitted to Zunyi Medical University Hospital in September 2020, was retrospectively analyzed. The 62-years-old male visited outpatient service because of dysphagia in March 2015, and the pulmonary nodules were found. In September 2020, the computed tomography indicated the enlarged nodule in the lower lobe of left lung with lobulation, and there was ground glass nodule in the upper lobe of left lung. Read More

Ear Nose Throat J 2022 May 9:1455613221101936. Epub 2022 May 9.

Department of Otolaryngology Head and Neck Surgery, 117127Mackay Memorial Hospital, Taitung, Taiwan.

Hamartomas are common in the lung, kidney, liver, spleen, and, but rare, in the sinonasal tract. Respiratory epithelial adenomatoid hamartomas (REAHs) are benign lesions common in men aged 30 to 90 years. Approximately 70% of REAHs in the head and neck region originate from the posterior nasal septum. Read More

World J Clin Cases 2022 Mar;10(8):2650-2656

Department of Pathology, Hebei General Hospital, Shijiazhuang 050000, Hebei Province, China.

Background: It now seems that all pulmonary hamartomas (PHs) are large cystic-solid lesions that are difficult to diagnose. However, few cases of large cystic-solid PHs have been reported. The present case report presents a large cystic-solid PH and provides a literature review of the imaging features, formation mechanism and histopathological basis of PHs. Read More

J Clin Invest 2022 May;132(10)

Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

BackgroundTuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC facial skin was performed.MethodsA multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation detection at extremely low (<0. Read More

Arch Bronconeumol 2022 Apr 25;58(4):363. Epub 2021 Sep 25.

Pathology, Virgen Macarena University Hospital and School of Medicine, University of Seville, Seville, Spain. Electronic address:

Orphanet J Rare Dis 2022 03 15;17(1):124. Epub 2022 Mar 15.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Background: Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to monitor these thoracoabdominal findings, but imaging is not uniformly done across centers. Read More

Rom J Morphol Embryol 2021 Jul-Sep;62(3):697-704

Department of Pathology, Emergency University Hospital, Bucharest, Romania;

Background: Lung is the third most frequent identified site of malignancy and lung cancer is the most lethal type of cancer in the world. Several benign lung diseases or proliferations may mimic lung carcinoma in its clinical, pathological, and radiological presentation, which makes the differential diagnosis life changing. This case series was designed to describe the main diagnosis encountered in a multidisciplinary emergency hospital during the last years in Romania. Read More

BMC Pulm Med 2022 Mar 5;22(1):77. Epub 2022 Mar 5.

Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.

Background: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of the tuberous sclerosis complex (TSC) with distinctive histological characteristics. Most case reports of MMPH associated with TSC usually have a history and typical clinical features (seizures, mental retardation, and skin lesions) of TSC. We present a peculiar asymptomatic MMPH case that lacked the history and typical clinical features of TSC. Read More

Orphanet J Rare Dis 2022 02 28;17(1):85. Epub 2022 Feb 28.

Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease.

Results: We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES). Read More

J Clin Anesth 2022 06 12;78:110655. Epub 2022 Feb 12.

Service d'Anesthésie Réanimation Médecine Péri Opératoire, AP-HP, Université Paris Saclay, Hôpital Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France. Electronic address:

BMC Med Imaging 2022 02 7;22(1):22. Epub 2022 Feb 7.

Department of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.

Background: The diagnosis of patients with Birt-Hogg-Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax. Read More

Sci Adv 2022 02 4;8(5):eabi9533. Epub 2022 Feb 4.

Laura and Isaac Perlmutter Cancer Center, New York University Grossman School of Medicine, NYU Langone Health, New York, NY, USA.

Tuberous sclerosis complex subunit 1 () and 2 () are frequently mutated in non-small cell lung cancer (NSCLC), however, their effects on antitumor immunity remained unexplored. A CRISPR screening in murine / (KP) model identified and as potent regulators of programmed cell death ligand 1 (Pd-l1) expression in vitro and sensitivity to anti-programmed cell death receptor 1 (PD-1) treatment in vivo. or knockout (KO) promoted the transcriptional and membrane expression of PD-L1 in cell lines. Read More

J Med Case Rep 2022 Jan 17;16(1). Epub 2022 Jan 17.

Medical Director of Academics, Clinical Research and Precision Medicine, Lee Physicians Group, Lee Health, 9800 S. HealthPark Drive, Suite 200, Fort Myers, FL, 33908, USA.

Background: Allergic rhinitis is the most common allergic disease encountered in a primary care setting. Diagnosis is often made clinically based on response to empiric therapy. However, with long-term treatment failure and/or atypical disease presentation, a differential diagnosis should be considered. Read More

Medicine (Baltimore) 2022 Jan;101(1):e28242

Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Rationale: Mesenchymal cystic pulmonary hamartoma is a rare type of hamartoma that has been reported in all cases in the literature. Most patients were reported to have spontaneous pneumothorax and were treated by surgery, and finally confirmed to be caused by rupture of the cystic hamartoma. Here, we report a case of mesenchymal cystic pulmonary hamartoma detected using computed tomography (CT) during a health check-up without obvious symptoms. Read More

Cell Cycle 2022 02 5;21(4):368-378. Epub 2022 Jan 5.

Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Long non-coding RNA (lncRNA) ACTA2-AS1 has been reported to play an important role in the progression of multiple human malignancies. The article aims to explore the role of ACTA2-AS1 on the cisplatin resistance of non-small cell lung cancer (NSCLC). RT-qPCR was performed to investigate the expression of ACTA2-AS1 in cisplatin-resistant NSCLC cell lines. Read More

Am J Physiol Lung Cell Mol Physiol 2022 02 22;322(2):L283-L293. Epub 2021 Dec 22.

Translational Medical Sciences, Biodiscovery Institute, University of Nottingham, Nottingham, United Kingdom.

Lymphangioleiomyomatosis (LAM) is a female-specific cystic lung disease in which tuberous sclerosis complex 2 (TSC2)-deficient LAM cells, LAM-associated fibroblasts (LAFs), and other cell types infiltrate the lungs. LAM lesions can be associated with type II alveolar epithelial (AT2) cells. We hypothesized that the behavior of AT2 cells in LAM is influenced locally by LAFs. Read More

Monaldi Arch Chest Dis 2021 Dec 16;92(3). Epub 2021 Dec 16.

Unit of Respiratory Infectious Disease, Cotugno Hospital, Azienda Ospedaliera dei Colli, Naples.

Pulmonary hamartomas represent the most frequent family of benign lung tumors that typically involve the lung parenchyma and only rarely grow as endobronchial tumors. The elective treatment of endobronchial hamartoma is the bronchoscopic resection, and in those cases in which tumor extension and localization makes it not possible, surgical treatment must be evaluated. Patients with symptomatic COVID-19, hospitalized, frequently undergo a chest CT scan and in some cases, occasional findings may emerge, requiring diagnostic investigations such as bronchoscopy and interventional pulmonology procedures. Read More

Mod Pathol 2022 05 14;35(5):676-679. Epub 2021 Dec 14.

Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.

This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially considered most likely a mesenchymal hamartoma based on imaging, demonstrated the characteristic histologic pattern of embryonal rhabdomyosarcoma residing in the subepithelial or cambium layer-like zone of the epithelial-lined cysts. Thus, although the differential diagnosis includes mesenchymal hamartoma, a young child with a multicystic mass lesion in the liver, lung, or kidney should both raise the possibility of a germline pathogenic DICER1 variant and also not be mistaken for one of the other hepatic neoplasms of childhood. Read More

Indian J Thorac Cardiovasc Surg 2022 Jan 8;38(1):99-101. Epub 2021 Sep 8.

Department of CTVS, The Christian Medical College, Vellore, Tamil Nadu 632004 India.

Hamartoma is the commonest benign tumor of the lung. They usually present as an asymptomatic solitary solid nodule of varying size, located peripherally in the lung parenchyma and picked up incidentally in a chest X-ray. Rarely, they may be intra-bronchial in location. Read More

Medicina (Kaunas) 2021 Nov 11;57(11). Epub 2021 Nov 11.

Legal Medicine Section, Interdisciplinary Department of Medicine, University of Bari "Aldo Moro", 70124 Bari, Italy.

In forensic pathology, apparently straightforward cases can often hide rarities that, if not correctly interpreted, can alter the results of the entire investigation, leading to misinterpretations. This occurs when the investigation is conducted to assess medical malpractice. An unexpected death, with no known apparent cause, is often linked to an underlying disease process of unclear etiological origin whose nature can, unfortunately, be properly investigated only post-mortem. Read More

JCI Insight 2021 11 22;6(22). Epub 2021 Nov 22.

Department of Dermatology, Feinberg School of Medicine.

Mutations underlying disease in tuberous sclerosis complex (TSC) give rise to tumors with biallelic mutations in TSC1 or TSC2 and hyperactive mammalian target of rapamycin complex 1 (mTORC1). Benign tumors might exhibit de novo expression of immunogens, targetable by immunotherapy. As tumors may rely on ganglioside D3 (GD3) expression for mTORC1 activation and growth, we compared GD3 expression in tissues from patients with TSC and controls. Read More

Indian J Thorac Cardiovasc Surg 2021 Nov 8;37(6):702-705. Epub 2021 Jun 8.

Department of Cardiothoracic Surgery, Dr D Y Patil Medical College and Hospital, Pune, Maharashtra India.

Pulmonary hamartomas are rare tumors and are mostly found incidentally in patients investigated for other pathologies. They are frequently small in size, though with some being reported as large as 25 centimeters (cm). We are reporting a case of a huge pulmonary hamartoma (measuring 25. Read More

Croat Med J 2021 Oct;62(5):523-527

Yongxia Li, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China,

We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c. Read More

Sisli Etfal Hastan Tip Bul 2021 24;55(3):344-348. Epub 2021 Sep 24.

Department of Chest Surgery, Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital, Istanbul, Turkey.

Objectives: Hamartomas are common benign tumors of the lung. Rarely, lung cancer coincidence may occur at the time of diagnosis or in the follow-up period.

Methods: Between 2016 and 2019, 38 patients who underwent a surgical procedure and diagnosed with lung hamartoma were retrospectively evaluated regarding clinicopathological features. Read More

Cureus 2021 Sep 23;13(9):e18230. Epub 2021 Sep 23.

Emergency Medicine, Envision Physician Services, Plantation, USA.

Pulmonary hamartoma is the most common benign tumor of the lungs. It is most often asymptomatic and is discovered incidentally. The condition is two to three times more common in men and is usually seen in the sixth to seventh decade of life. Read More

Am J Case Rep 2021 Oct 7;22:e933320. Epub 2021 Oct 7.

Department of Nuclear Medicine, Military Institute of Medicine, Warsaw, Poland.

BACKGROUND Tuberous sclerosis complex (TSC; Bourneville-Pringle disease) is a multisystem genetic disorder manifesting as benign tumors that can affect any system. Malignant neoplasm may coexist in patients with TSC. In such cases, there are diagnostic difficulties in distinguishing between metastatic lesions and benign changes. Read More

Mod Pathol 2022 01 1;35(1):4-22. Epub 2021 Oct 1.

International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, MN, USA.

DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. Read More

Clin Nucl Med 2021 Nov;46(11):919-921

From the Division of Nuclear Medicine and Molecular Imaging, The Russell H. Morgan Department of Radiology and Radiological Science.

Abstract: A 73-year-old man with history of grade group 1/Gleason 3 + 3 = 6 prostate adenocarcinoma status post prostatectomy had subsequent biochemical recurrence with serum prostate-specific antigen level of 2.4 ng/mL. He underwent an 18F-fluciclovine PET/CT scan that demonstrated a left prostate bed recurrence and an incidental 18F-fluciclovine-avid smooth-edged solitary lung nodule with internal fat attenuation. Read More